Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Analysis of human sarcospan as a candidate gene for CFEOM1.

  PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups

  Full-text index only

  Sarcospan sequence is unmutated in all six CFEOM1 families studied

  yac genomic extraocular genome pcr direct immunofluorescence

• Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).

  PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups

  Full-text index only

  89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones

  normalized rainbow salmonids microsatellite sanger pcr

• Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

  PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups

  Full-text index only

  DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing

  genomic muscle blood direct dhplc multiplexed

• A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

  PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups

  Full-text index only

  A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI

  skeletal genomic cos serum immunohistochemistry immunoblotting laminin

• Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

  PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups

  Full-text index only

  The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.

  pelvis skeletal muscle genomic muscle histology electron

• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

  PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

  Full-text index only

  POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

  blood parental model sanger parental microsatellite

• An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.

  PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups

  Full-text index only

  The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization

  bovine bac roslin deduced southern bac radiation

• Inference of transcriptional regulation using gene expression data from the bovine and human genomes.

  PMID 17683551 · PMC1978505 · BMC genomics · 2007 · 7 claims · 8 setups

  Full-text index only

  Using human reference promoter sequences is a useful approach for studying gene expression regulation in species with limited or non-existing genomic sequence, such as cattle.

  muscle-specific bovine refseq cardiac novo est blastn

• Reconstructing the evolution of the mitochondrial ribosomal proteome.

  PMID 17604309 · PMC1950548 · Nucleic acids research · 2007 · 8 claims · 6 setups

  Full-text index only

  The ancestral mitoribosome was of alpha-proteobacterial descent and more than doubled its protein content in most eukaryotic lineages.

  proteomes eukaryotic aligned alignments iterative hmm-based neighbor-joining

• A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

  PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups

  Full-text index only

  Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.

  members family biceps proband two-point direct muscle

• Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

  PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups

  Full-text index only

  All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix

  dermal skeletal fibroblast confluent rt-pcr immunohistochemistry biosynthetic

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

  Full-text index only

  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• Identification of immune-related signatures and pathogenesis differences between thoracic aortic aneurysm patients with bicuspid versus tricuspid valves via weighted gene co-expression network analysis.

  PMID 37883426 · PMC10602290 · PloS one · 2023 · 6 claims · 7 setups

  Has reproduction · 97

  TAA/TAV pathogenesis is more associated with immune-related gene expression than TAA/BAV, with two WGCNA gene modules (brown and blue) enriched for immune functions.

  aortic brown genes training wgcna biological gsva

• Chromosome-level genome assembly of Lilford's wall lizard, Podarcis lilfordi (Günther, 1874) from the Balearic Islands (Spain).

  PMID 37137526 · PMC10214862 · DNA research : an international journal for rapid publication of reports on genes and genomes · 2023 · 8 claims · 8 setups

  Has reproduction · 85

  First high-quality chromosome-level genome assembly and annotation of P. lilfordi, generated via a mixed sequencing strategy (10X linked reads, ONT long reads, Hi-C) plus RNAseq/Iso-Seq

  liver-derived muscle heart pooled 10x oxford hi-c